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EFCAB9 Gene(Protein Coding)

EF-Hand Calcium Binding Domain 9

GCID:
GC05P172198
GIFtS:
31
Genes Participants
UDN Logo

Aliases for EFCAB9 Gene

Aliases for EFCAB9 Gene

  • EF-Hand Calcium Binding Domain 9 2 3 5
  • EF-Hand Calcium-Binding Domain-Containing Protein 9 3

External Ids for EFCAB9 Gene

Previous GeneCards Identifiers for EFCAB9 Gene

  • GC05P171554
  • GC05P166716

Summaries for EFCAB9 Gene

Entrez Gene Summary for EFCAB9 Gene

  • This gene encodes a protein with a C-terminal EF-hand calcium-binding domain similar to that found in penta-EF-hand (PEF) protein family members. The EF-hand is a helix-loop-helix structure with a canonical twelve-residue sequence that coordinates a calcium molecule with pentagonal bipyramidal symmetry. [provided by RefSeq, Jul 2017]

GeneCards Summary for EFCAB9 Gene

EFCAB9 (EF-Hand Calcium Binding Domain 9) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding.

Additional gene information for EFCAB9 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFCAB9 Gene

Genomics for EFCAB9 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for EFCAB9 Gene

Promoters and enhancers for EFCAB9 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH05J172763 Promoter/Enhancer 3.1 VISTA EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.4 +583.8 583769 16.8 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 DUSP1 CREBRF KLF3P1 ERGIC1 SH3PXD2B ENSG00000253628 ENSG00000253172 SMIM23 BOD1 EFCAB9
GH05J172958 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.4 +771.2 771182 3.1 HDGF SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B LOC100268168 RPL26L1 KLF3P1 CREBRF ENSG00000253628 ENSG00000253172 EFCAB9 BOD1 BNIP1 LOC285591
GH05J171386 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.4 -799.4 -799448 4.7 HDGF CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B NPM1 GC05P171389 GC05P171388 KLF3P1 SMIM23 EFCAB9 MIR3912 FGF18
GH05J172280 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.3 +94.7 94650 5 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 UBTD2 EFCAB9 ENSG00000212529 KLF3P1
GH05J172894 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.4 +712.5 712518 12.7 CLOCK MLX FEZF1 IRF4 YY1 E2F8 ZNF416 MEF2D SSRP1 GLIS1 KLF3P1 BOD1 BNIP1 UBTD2 ERGIC1 DUSP1 ENSG00000253628 ENSG00000253172 FBXW11 EFCAB9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EFCAB9 on UCSC Golden Path with GeneCards custom track

Genomic Locations for EFCAB9 Gene

Genomic Locations for EFCAB9 Gene
chr5:172,188,430-172,203,454
(GRCh38/hg38)
Size:
15,025 bases
Orientation:
Plus strand
chr5:171,621,176-171,630,458
(GRCh37/hg19)
Size:
9,283 bases
Orientation:
Plus strand

Genomic View for EFCAB9 Gene

Genes around EFCAB9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFCAB9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFCAB9 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for EFCAB9 Gene

Proteins for EFCAB9 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for EFCAB9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A8MZ26-EFCB9_HUMAN
    Recommended name:
    EF-hand calcium-binding domain-containing protein 9
    Protein Accession:
    A8MZ26

    Protein attributes for EFCAB9 Gene

    Size:
    197 amino acids
    Molecular mass:
    23937 Da
    Quaternary structure:
    No Data Available

neXtProt entry for EFCAB9 Gene

Protein Expression for EFCAB9 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for EFCAB9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EFCAB9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EFCAB9 Gene

Domains & Families for EFCAB9 Gene

Gene Families for EFCAB9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EFCAB9 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EFCAB9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EFCAB9: view

No data available for UniProtKB/Swiss-Prot for EFCAB9 Gene

Function for EFCAB9 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Phenotypes From GWAS Catalog for EFCAB9 Gene

Gene Ontology (GO) - Molecular Function for EFCAB9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with EFCAB9: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for EFCAB9 Gene

Localization for EFCAB9 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EFCAB9 gene
Compartment Confidence
cytosol 3
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for EFCAB9 Gene

Pathways & Interactions for EFCAB9 Gene

SuperPathways for EFCAB9 Gene

PathCards logo More details on SuperPathways for EFCAB9
No Data Available

Interacting Proteins for EFCAB9 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000381247%0d%0a9606.ENSP00000297494%0d%0a9606.ENSP00000337459%0d%0a9606.ENSP00000327251%0d%0a9606.ENSP00000261839%0d%0a9606.ENSP00000382177%0d%0a
Selected Interacting proteins: ENSP00000381247 for EFCAB9 Gene via STRING

GPS-Prot Interaction Network for EFCAB9

Gene Ontology (GO) - Biological Process for EFCAB9 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for EFCAB9 Gene

Drugs & Compounds for EFCAB9 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for EFCAB9 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for EFCAB9 Gene

(1) REFSEQ mRNAs :
(0) Additional mRNA sequences :
-
(3) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EFCAB9 Gene

EF-hand calcium binding domain 9:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EFCAB9 Gene

No ASD Table

Relevant External Links for EFCAB9 Gene

GeneLoc Exon Structure for
EFCAB9
ECgene alternative splicing isoforms for
EFCAB9

Expression for EFCAB9 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EFCAB9 Gene

mRNA expression in normal human tissues for EFCAB9 Gene
mRNA expression by GTEx for EFCAB9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EFCAB9 Gene

This gene is overexpressed in Testis (x45.8).

Protein differential expression in normal tissues from HIPED for EFCAB9 Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EFCAB9 Gene



Protein tissue co-expression partners for EFCAB9 Gene

NURSA nuclear receptor signaling pathways regulating expression of EFCAB9 Gene:

EFCAB9

SOURCE GeneReport for Unigene cluster for EFCAB9 Gene:

Hs.716824
genes like me logo Genes that share expression patterns with EFCAB9: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for EFCAB9 Gene

Orthologs for EFCAB9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EFCAB9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia EFCAB9 34 33
  • 99.32 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia EFCAB9 34 33
  • 82.97 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia EFCAB9 34 33
  • 82.2 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia LOC100911628 33
  • 76.83 (n)
mouse
(Mus musculus)
 Mammalia Efcab9 16 34 33
  • 76.19 (n)
oppossum
(Monodelphis domestica)
 Mammalia EFCAB9 34
  • 56 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia EFCAB9 34
  • 55 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia EFCAB9 34
  • 46 (a)
 OneToOne
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 44 (a)
 OneToOne
Species where no ortholog for EFCAB9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for EFCAB9 Gene

ENSEMBL:
Gene Tree for EFCAB9 (if available)
TreeFam:
Gene Tree for EFCAB9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EFCAB9: view image

Paralogs for EFCAB9 Gene

No data available for Paralogs for EFCAB9 Gene

Variants for EFCAB9 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for EFCAB9 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000314255 -- 172,188,252(+) CCCGCCCCCGCCCCCGCCC/CCCGCCCCCGCCC/CCCGCCCCCGCCCCCGCCCCCGCCC coding_sequence_variant, genic_upstream_transcript_variant, inframe_deletion, inframe_insertion
rs1000368089 -- 172,188,487(+) T/C coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs1000604132 -- 172,200,495(+) C/A intron_variant
rs1000784738 -- 172,201,058(+) C/A intron_variant
rs1000876768 -- 172,195,222(+) T/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EFCAB9 Gene

Variant ID Type Subtype PubMed ID
esv2759392 CNV gain+loss 17122850
nsv1015251 CNV gain 25217958

Variation tolerance for EFCAB9 Gene

Gene Damage Index Score: 2.89; 48.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EFCAB9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFCAB9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFCAB9 Gene

Disorders for EFCAB9 Gene

Additional Disease Information for EFCAB9

ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for EFCAB9 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EFCAB9 Gene

Publications for EFCAB9 Gene

  1. The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J … Rubin EM (Nature 2004) 3 4 58
  2. Structural basis for diversity of the EF-hand calcium-binding proteins. (PMID: 16678204) Grabarek Z (Journal of molecular biology 2006) 3 58
  3. Target selectivity in EF-hand calcium binding proteins. (PMID: 15590057) Bhattacharya S … Chazin WJ (Biochimica et biophysica acta 2004) 3 58
  4. Structures, functions and molecular evolution of the penta-EF-hand Ca2+-binding proteins. (PMID: 12445459) Maki M … Shibata H (Biochimica et biophysica acta 2002) 3 58
  5. The sequence of the human genome. (PMID: 11181995) Venter JC … Zhu X (Science (New York, N.Y.) 2001) 3 58

Products for EFCAB9 Gene

Sources for EFCAB9 Gene

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